Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly

Author:

Sabbagh QuentinORCID,Tharreau Mylène,Cenni Camille,Sanchez Elodie,Ruiz-Pallares Nathalie,Alkar Fanny,Amouroux Cyril,David Stéphanie,Prodhomme Olivier,Leboucq Nicolas,Meunier Isabelle,Bessis Didier,Theron Alexandre,Barat-Houari Mouna,Willems Marjolaine

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference20 articles.

1. «A new association between CDK5RAP2 microcephaly and congenital cataracts;Alfares;Ann. Hum. Genet.,2017

2. «Cdk5Rap2 functions in centrosome to spindle pole attachment and DNA damage response;Barr;J. Cell Biol.,2010

3. «A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size;Bond;Nat. Genet.,2005

4. «Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex;Buchman;Neuron,2010

5. «Meier-Gorlin syndrome;De Munnik;Orphanet J. Rare Dis.,2015

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